Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Abnormal pattern of respiration (HP:0002793)

..Starting node
..Tachypnea (HP:0002789)

Term ID:

2789

Name:

Tachypnea

Synonym:

Increased respiratory rate or depth of breathing; Polypnea

Definition:

Very rapid breathing.

Comments:

Reference:

HP:0002789

Genes and Diseases:

Child Nodes:

........

Episodic tachypnea (HP:0002876)

Sister Nodes:

Apnea (HP:0002104)

Cheyne-Stokes respiration (HP:0012196)

Hyperventilation (HP:0002883)

Hypopnea (HP:0040213)

Hypoventilation (HP:0002791)

Irregular respiration (HP:0012195)

Night gasping (HP:0031503)

Paradoxical respiration (HP:0030207)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002789	HP:0002789	Tachypnea	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	147
HP:0002789	HP:0002789	Tachypnea	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3	.	147
HP:0002789	HP:0002789	Tachypnea	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0002789	HP:0002789	Tachypnea	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002789	HP:0002789	Tachypnea	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.	200
HP:0002789	HP:0002789	Tachypnea	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0002789	HP:0002789	Tachypnea	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0002789	HP:0002789	Tachypnea	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0002789	HP:0002789	Tachypnea	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002789	HP:0002789	Tachypnea	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0002789	HP:0002789	Tachypnea	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0002789	HP:0002789	Tachypnea	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0002789	HP:0002789	Tachypnea	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002789	HP:0002789	Tachypnea	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002789	HP:0002789	Tachypnea	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0002789	HP:0002789	Tachypnea	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0002789	HP:0002789	Tachypnea	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0002789	HP:0002789	Tachypnea	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0002789	HP:0002789	Tachypnea	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0002789	HP:0002789	Tachypnea	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0002789	HP:0002789	Tachypnea	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0002789	HP:0002789	Tachypnea	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0002789	HP:0002789	Tachypnea	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002789	HP:0002789	Tachypnea	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0002789	HP:0002789	Tachypnea	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0002789	HP:0002789	Tachypnea	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0002789	HP:0002789	Tachypnea	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0002789	HP:0002789	Tachypnea	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0002789	HP:0002789	Tachypnea	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0002789	HP:0002789	Tachypnea	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0002789	HP:0002789	Tachypnea	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0002789	HP:0002789	Tachypnea	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0002789	HP:0002789	Tachypnea	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0002789	HP:0002789	Tachypnea	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002789	HP:0002789	Tachypnea	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0002789	HP:0002789	Tachypnea	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0002789	HP:0002789	Tachypnea	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0002789	HP:0002789	Tachypnea	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0002789	HP:0002789	Tachypnea	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0002789	HP:0002789	Tachypnea	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002789	HP:0002789	Tachypnea	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002789	HP:0002789	Tachypnea	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002789	HP:0002789	Tachypnea	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0002789	HP:0002789	Tachypnea	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0002789	HP:0002789	Tachypnea	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0002789	HP:0002789	Tachypnea	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040282 - Frequent	148
HP:0002789	HP:0002789	Tachypnea	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002789	HP:0002789	Tachypnea	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0002789	HP:0002789	Tachypnea	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0002789	HP:0002789	Tachypnea	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0002789	HP:0002789	Tachypnea	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002789	HP:0002789	Tachypnea	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0002789	HP:0002789	Tachypnea	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0002789	HP:0002789	Tachypnea	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.	24
HP:0002789	HP:0002789	Tachypnea	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0002789	HP:0002789	Tachypnea	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0002789	HP:0002789	Tachypnea	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0002789	HP:0002789	Tachypnea	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0002789	HP:0002789	Tachypnea	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0002789	HP:0002789	Tachypnea	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0002789	HP:0002789	Tachypnea	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0002789	HP:0002789	Tachypnea	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0002789	HP:0002789	Tachypnea	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002789	HP:0002789	Tachypnea	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002789	HP:0002789	Tachypnea	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0002789	HP:0002789	Tachypnea	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0002789	HP:0002789	Tachypnea	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0002789	HP:0002789	Tachypnea	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency	.	52
HP:0002789	HP:0002789	Tachypnea	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0002789	HP:0002789	Tachypnea	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0002789	HP:0002789	Tachypnea	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0002789	HP:0002789	Tachypnea	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0002789	HP:0002789	Tachypnea	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0002789	HP:0002789	Tachypnea	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0002789	HP:0002789	Tachypnea	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0002789	HP:0002789	Tachypnea	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0002789	HP:0002789	Tachypnea	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0002789	HP:0002789	Tachypnea	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0002789	HP:0002789	Tachypnea	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0002789	HP:0002789	Tachypnea	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0002789	HP:0002789	Tachypnea	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	51
HP:0002789	HP:0002789	Tachypnea	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040281 - Very frequent	51
HP:0002789	HP:0002789	Tachypnea	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.	51
HP:0002789	HP:0002789	Tachypnea	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	33
HP:0002789	HP:0002789	Tachypnea	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002789	HP:0002789	Tachypnea	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002789	HP:0002789	Tachypnea	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0002789	HP:0002789	Tachypnea	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0002789	HP:0002789	Tachypnea	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002789	HP:0002789	Tachypnea	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0002789	HP:0002789	Tachypnea	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0002789	HP:0002789	Tachypnea	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0002789	HP:0002789	Tachypnea	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0002789	HP:0002789	Tachypnea	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0002789	HP:0002789	Tachypnea	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	39
HP:0002789	HP:0002789	Tachypnea	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0002789	HP:0002789	Tachypnea	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	45
HP:0002789	HP:0002789	Tachypnea	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0002789	HP:0002789	Tachypnea	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0002789	HP:0002789	Tachypnea	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	33
HP:0002789	HP:0002789	Tachypnea	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0002789	HP:0002789	Tachypnea	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	82
HP:0002789	HP:0002789	Tachypnea	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0002789	HP:0002789	Tachypnea	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0002789	HP:0002789	Tachypnea	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0002789	HP:0002789	Tachypnea	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0002789	HP:0002789	Tachypnea	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	49
HP:0002789	HP:0002876	Episodic tachypnea	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0002789	HP:0002876	Episodic tachypnea	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0002789	HP:0002876	Episodic tachypnea	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0002789	HP:0002876	Episodic tachypnea	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0002789	HP:0002876	Episodic tachypnea	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002789	HP:0002876	Episodic tachypnea	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002789	HP:0002876	Episodic tachypnea	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0002789	HP:0002876	Episodic tachypnea	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0002789	HP:0002876	Episodic tachypnea	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002789	HP:0002876	Episodic tachypnea	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002789	HP:0002876	Episodic tachypnea	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0002789	HP:0002876	Episodic tachypnea	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0002789	HP:0002876	Episodic tachypnea	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0002789	HP:0002876	Episodic tachypnea	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0002789	HP:0002876	Episodic tachypnea	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0002789	HP:0002876	Episodic tachypnea	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002789	HP:0002876	Episodic tachypnea	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002789	HP:0002876	Episodic tachypnea	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0002789	HP:0002876	Episodic tachypnea	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002789	HP:0002876	Episodic tachypnea	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0002789	HP:0002876	Episodic tachypnea	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0002789	HP:0002876	Episodic tachypnea	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0002789	HP:0002876	Episodic tachypnea	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0002789	HP:0002876	Episodic tachypnea	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0002789	HP:0002876	Episodic tachypnea	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002789	HP:0002876	Episodic tachypnea	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0002789	HP:0002876	Episodic tachypnea	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0002789	HP:0002876	Episodic tachypnea	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0002789	HP:0002876	Episodic tachypnea	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0002789	HP:0002876	Episodic tachypnea	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0002789	HP:0002876	Episodic tachypnea	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0002789	HP:0002876	Episodic tachypnea	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0002789	HP:0002876	Episodic tachypnea	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0002789	HP:0002876	Episodic tachypnea	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0002789	HP:0002876	Episodic tachypnea	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0002789	HP:0002876	Episodic tachypnea	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0002789	HP:0002876	Episodic tachypnea	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	124
HP:0002789	HP:0002876	Episodic tachypnea	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	45
HP:0002789	HP:0002876	Episodic tachypnea	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	76
HP:0002789	HP:0002876	Episodic tachypnea	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0002789	HP:0002876	Episodic tachypnea	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002789	HP:0002876	Episodic tachypnea	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0002789	HP:0002876	Episodic tachypnea	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002789	HP:0002876	Episodic tachypnea	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	82
HP:0002789	HP:0002876	Episodic tachypnea	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	166
HP:0002789	HP:0002876	Episodic tachypnea	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002789	HP:0002876	Episodic tachypnea	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0002789	HP:0002876	Episodic tachypnea	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17

Genes (87) :ABCA3 ABCD4 ACADVL ACAT1 ACTA2 AHI1 ARL13B ARL3 ARMC9 ARSL B9D1 B9D2 BOLA3 BTD CA5A CACNA1S CASR CBY1 CC2D2A CDKL5 CEP104 CEP120 CEP290 CEP41 COA6 COPA CPLANE1 CSF2RA CSF2RB CSPP1 CYTB FAM149B1 FARSB FBP1 GABBR2 HLCS HMGCL HYLS1 IGHMBP2 INPP5E KATNIP KIAA0586 KIAA0753 KIF7 LRPPRC LYRM7 MECP2 MKS1 NEK1 NHLRC2 NKX2-1 NKX2-6 NTNG1 OFD1 OXCT1 PAM16 PCCA PCCB PDE6D PIBF1 PLXND1 RHAG RHCE RHD RPGRIP1L RYR1 SFTPB SFTPC SLC25A15 SLC34A2 SMC1A STING1 SUFU TCTN1 TCTN2 TCTN3 TLL1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS UQCRC2 ZNF423

Diseases (56) :ORPHA:70587 OMIM:610921 OMIM:614857 ORPHA:26793 OMIM:201475 ORPHA:134 OMIM:613834 ORPHA:475 OMIM:608629 OMIM:617622 ORPHA:79345 OMIM:614299 OMIM:253260 OMIM:615751 ORPHA:423 OMIM:239200 OMIM:612285 ORPHA:2318 ORPHA:3095 OMIM:610188 OMIM:616501 OMIM:616414 ORPHA:2754 ORPHA:264675 OMIM:300770 ORPHA:397715 ORPHA:137675 OMIM:613658 ORPHA:348 OMIM:253270 ORPHA:79242 ORPHA:20 OMIM:604320 OMIM:213300 OMIM:616490 OMIM:220111 OMIM:615838 ORPHA:2751 OMIM:618278 OMIM:610978 ORPHA:3384 OMIM:245050 OMIM:613320 OMIM:606054 ORPHA:71275 OMIM:611560 ORPHA:466650 ORPHA:217563 OMIM:265120 OMIM:610913 ORPHA:415 ORPHA:60025 OMIM:615934 ORPHA:99106 OMIM:608091 OMIM:615160

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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